The Patient’s Role in Diagnosis


THE CHALLENGE in making a correct diagnosis belongs to doctors and other medical personnel, but crucial breakthroughs come sometimes from the way the patient tells her story and any evidence, such as photos or fluid samples, she can bring.

Recounting a recent medical misadventure in the Washington Post, retired neurologist Steven H. Horowitz described an “inept” diagnosis that could have resulted in him becoming quadriplegic.  At an “elite medical center,” following a long bike ride, Horowitz reported numbness in his limbs, and his blood work showed active infection—key indicators that even medically unaware patients should recognize.

The spinal consultant, however, failed to check for the Babinski sign (reflex), a classic measure of spinal compression, and misidentified a mass on the MRI as a blood clot even while elevated blood proteins strongly suggested an abscess. When Horowitz finally was able to review his test results two days later, he needed immediate spinal surgery, followed by long-term intravenous antibiotics.

While the typical patient need not understand the details of blood markers, the presence of “elevated blood proteins” should encourage the search for causes of infection. The most worrisome protein indicators include ESR (erythrocyte sedimentation rate), indicating greater numbers of several proteins sticking to red blood cells, which makes them heavier; and CRP (C-reactive protein) assesses higher levels of that protein.

The unusual presence of blood can also be a vital clue, for example, visible blood in the urine called “gross hematuria” —which in a different medical mystery led to a belated diagnosis of kidney cancer in an atypically young patient. Hematuria can also be a sign of kidney disease, infection in either the kidney or the urinary tract, and a bladder or kidney stone.

In hindsight and maybe because she had worked in a medical clinic, the kidney-cancer patient suspected that bringing in either pictures or a sample of her bloody urine could have helped convince doctors that the cause was serious. “Somehow I think doctors believe patients when there is something visible or tangible, rather than just our words,” she said.

Sudden new symptoms that require urgent care are the most familiar, such as seeing bright flashes that may signal retinal detachment; or sleep disruption, irritability and headaches following a blow to the head that suggest concussion.

The acronym FAST, which should be familiar, refers to symptoms and response in the case of possible stroke: F for face drooping; A for arm weakness—raising both arms to compare; and S for speech difficulty when attempting an easy sentence. T for time indicates the need for very fast response: Call 911 and say, “I think stroke.”

But chronic symptoms like fatigue and pain can be trickier for physicians—tricky to measure, also tricky to diagnose because each has so many possible causes. Extreme fatigue can signal cancers of the pancreas, ovaries, brain and colon, as well as leukemia; and the addition of pain can indicate any cancer, but particularly bone cancer.

Fatigue can also suggest infection by a virus like SARS-CoV-2 or by the Lyme spirochete —although both infections are more commonly associated with other symptoms, like breathing difficulty or the red bull’s-eye rash as well as fever.  Fatigue can also indicate complex chronic conditions like Chronic Fatigue Syndrome.

Even symptoms that sound vague can signal cancer or other serious illness diagnosis.  Ovarian cancer patients often report a “feeling of fullness”—exactly the kind of complaint doctors have tended to dismiss; and bruising easily is a common a sign of leukemia—one symptom that might be more convincing with photos.

Clustered symptoms can also be a red flag.  For carbon monoxide poisoning, victims often present with a “staggering variety of seemingly vague symptoms, including headache, vomiting and abdominal pain,” according to ABC News. “As a result, affected individuals can easily be misdiagnosed with a viral illness or food poisoning.”

One good way of learning about worrisome symptoms is reading patients’ stories, for example in “medical mysteries” columns or in collections like Every Patient Tells a Story by New York Times Magazine “Diagnosis” columnist Lisa Sanders.

Crucial non-medical information may also come from getting the whole story.  In Horowitz’s piece, for example, anyone who takes long bike rides might benefit from learning that lower-than-usual handlebars—in Horowitz’s case two inches lower—can cause life-threatening spinal compression.

My education in symptom story-telling came after spending almost two weeks with severe muscle aches, along with fever and trouble sleeping, by the end labeling the pain a 10, with an unresponsive doctor—until I highlighted one symptom for which I had objective details.

“Every night I go to bed at midnight and sleep for half an hour,” I told the doctor.  “At 12:30, I wake up and for the rest of the night am in such pain that sometimes I walk on the public beach in my nightgown.” Right away, I got the Lyme testing I’d requested from the beginning, along with a prescription for doxycycline—although the weeks of untreated Lyme may have caused lasting issues, in particular with sleep.

—Mary Carpenter

Mary Carpenter regularly reports on topical issues in health and medicine.

One thought on “The Patient’s Role in Diagnosis

  1. Lauren says:

    When living in Kinshasa, my husband was diagnosed with advanced malaria and put on intravenous quinine. He did not improve and headaches and other pain became even more severe. A friend who was a visiting CDC doc doing early HIV/AIDS research offered to do a full medical history. I didn’t know what this was but I knew my husband was getting worse, not better. He spent hours taking a full history – asked every imaginable question. We had no access to any sort of diagnostic imaging so it was ALL just oral history. He finally diagnosed viral meningitis and had him immediately medivaced to South Africa. An MRI and spinal tap in Johannesburg confirmed the diagnosis. You are so right, complete information is critical.

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